A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16490418



Internal ID19353979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:31903110..31903110hg38UCSC Ensembl
chr8:31760626..31760626hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3668016
Supporting Variants
Samples
Known GenesNRG1
MethodSequencing
Analysisde novo assemblies produced from SoapDenovo2 were aligned to GRC37 using LAST and input into SoapAsmVar for population-wide structural variation detection. The method is described in the publication
PlatformIllumina HiSeq 2000
Comments
ReferenceBesenbacher_et_al_2015
Pubmed ID25597990
Accession Number(s)essv16490418
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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